Linked Data
ClinVar Variation Id:
143756
dbSNP Id:
rs267608556
gnomAD v2:
X-153296297-G-C
gnomAD v3:
X-154030846-G-C
gnomAD v4:
X-154030846-G-C
PubMed:
PMID:16473305
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030846G>C , CM000685.2:g.154030846G>C | GRCh38 |
| NC_000023.10:g.153296297G>C , CM000685.1:g.153296297G>C | GRCh37 |
| NC_000023.9:g.152949491G>C | NCBI36 |
| NG_007107.2:g.111282C>G | |
| NG_007107.3:g.111258C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.982C>G MANE Plus Clinical | ENSP00000301948.6:p.Leu328Val | |
| ENST00000453960.7:c.1018C>G MANE Select | ENSP00000395535.2:p.Leu340Val | |
| ENST00000637917.1:c.156C>G | ||
| ENST00000303391.10:c.982C>G | ENSP00000301948.6:p.Leu328Val | |
| ENST00000407218.5:c.*354C>G | ENSP00000384865.2:n.*354C>G | |
| ENST00000453960.6:c.1018C>G | ENSP00000395535.2:p.Leu340Val | |
| ENST00000619732.4:c.982C>G | ENSP00000480973.1:p.Leu328Val | |
| ENST00000622433.4:c.968C>G | ENSP00000484470.1:p.Pro323Arg | |
| ENST00000628176.2:c.*354C>G | ENSP00000486978.1:n.*354C>G | |
| NM_001110792.1:c.1018C>G | NP_001104262.1:p.Leu340Val | |
| NM_001316337.1:c.703C>G | NP_001303266.1:p.Leu235Val | |
| NM_004992.3:c.982C>G | NP_004983.1:p.Leu328Val | |
| XM_005274681.3:c.982C>G | XP_005274738.1:p.Leu328Val | |
| XM_005274682.3:c.703C>G | XP_005274739.1:p.Leu235Val | |
| XM_005274683.3:c.703C>G | XP_005274740.1:p.Leu235Val | |
| XM_006724819.2:c.313C>G | XP_006724882.1:p.Leu105Val | |
| XM_011531166.1:c.703C>G | XP_011529468.1:p.Leu235Val | |
| XM_006724819.3:c.313C>G | XP_006724882.1:p.Leu105Val | |
| XM_011531166.2:c.703C>G | XP_011529468.1:p.Leu235Val | |
| XM_024452383.1:c.703C>G | XP_024308151.1:p.Leu235Val | |
| XM_024452384.1:c.703C>G | XP_024308152.1:p.Leu235Val | |
| NM_001110792.2:c.1018C>G MANE Select | NP_001104262.1:p.Leu340Val | |
| NM_001316337.2:c.703C>G | NP_001303266.1:p.Leu235Val | |
| NM_001369391.2:c.703C>G | NP_001356320.1:p.Leu235Val | |
| NM_001369392.2:c.703C>G | NP_001356321.1:p.Leu235Val | |
| NM_001369393.2:c.703C>G | NP_001356322.1:p.Leu235Val | |
| NM_001369394.1:c.703C>G | NP_001356323.1:p.Leu235Val | |
| NM_001369394.2:c.703C>G | NP_001356323.1:p.Leu235Val | |
| NM_001386137.1:c.313C>G | NP_001373066.1:p.Leu105Val | |
| NM_001386138.1:c.313C>G | NP_001373067.1:p.Leu105Val | |
| NM_001386139.1:c.313C>G | NP_001373068.1:p.Leu105Val | |
| NM_004992.4:c.982C>G MANE Plus Clinical | NP_004983.1:p.Leu328Val |